Results 21 to 30 of about 1,273,440 (291)

Clinical genetics: Medical genetics [PDF]

European Journal of Human Genetics, 2006
In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire   +1 more source

Doctors Discussing “the Root of Koreans”: Medical Genetics and the Korean Origin, 1975-1987 [PDF]

Uisahak, 2019
Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started ...
Jaehwan HYUN
doaj   +1 more source

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron. [PDF]

, 2005
Blood. 2005 Oct 15;106(8):2922-3. A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.
Almeida, S., Bacelar, C., Camaschella, C., Daraio, F., Ganz, T., Nemeth, E., Pinto, J., Porto, G., Roetto, A.   +8 more
core   +1 more source

On the relevance of the “genetics-based” approach to medicine for sociological perspectives on medical specialization [PDF]

, 2008
This paper draws on a study on the development of medical genetics as a medical specialism in the UK and Canada to reflect on how local and national contexts affect specialty formation.
Abbott, Allen, British Paediatric Association., Bucher, Burnham, Burnham, Burrage, Childs, Childs, Committee on Genetics As It Relates to Social Problems (Genetics Society of Canada)., Cox, Crosland, Davidson, Department of Health and Social Security., Department of Health and Social Security., Department of Health and Social Security., Department of Health and Social Security., Ford, Ford, Foucault, Freidson, Geison, Gesell, Glaser, Gould, Graham, Hagstrom, Hall, Harwood, Haug, Hedgecoe, Herndon, Hickman, Hughes, Hughes, Janowitz, Johnson, Johnson, Johnston, Keating, Kerr, Kevles, Larson, Lassen, Leeming, Leeming, Leeming, Lejeune, Levine, Lewis, Lewis, Lin-Fu, Lindee, Macklin, Macklin, McClelland, McLaren, Medical Research Council Sub-Committee on Genetics., Medical Research Council/Department of Health and Social Security Joint Working Group on Genetics., Merton, Miller, Miller, Motulsky, Neel, Paul, Pernick, Powell, Ramsey, Reed, Riccardi, Riccardi, Ritzer, Robbins, Roberts, Robertson, Rueschemeyer, Rushton, Sapp, Scarbrough, Shinn, Shortt, Snyder, Steering Committee., Stevenson, Storer, Subcommittee on Objectives of Teaching, Association of American Medical Colleges., Thompson, Thompson, Weisz, Wilensky, William Leeming, Yoxen, Zola   +92 more
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The Overlap between Headache and Epilepsy in the Light of Recent Advances in Medical Genetics [PDF]

, 2014
Not ...
A. Ferretti, PAOLINO, MARIA CHIARA, PARISI, Pasquale   +2 more
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Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

Arquivos de Neuro-Psiquiatria, 1997
The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region.
João M. de Pina-Neto, Victor Evangelista F. Ferraz, Greice Andreotti de Molfetta, Jess Buxton, Sarah Richards, Sue Malcolm   +5 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Why and When Are Evidence‐Based Interventions Adopted in Paediatric Supportive Care? A Qualitative Exploration of the Determinants of Photobiomodulation Implementation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Oral mucositis is a common and debilitating side effect of childhood cancer and stem cell transplant treatments. It affects the quality of life of children and young people (CYP) and places a strain on services. Photobiomodulation is recommended for oral mucositis prevention in international guidance but is poorly implemented in UK ...
Claudia Heggie, Kara A. Gray‐Burrows, Peter F. Day, Bob Phillips, Carl A. Thompson   +4 more
wiley   +1 more source

Revisitando o desvendamento da etiologia da síndrome de Turner Revisiting establishment of the etiology of Turner syndrome

História, Ciências, Saúde: Manguinhos, 2009
Com base em entrevista com José Carlos Cabral de Almeida, o artigo aborda a investigação que culminou no estabelecimento da etiologia genética da síndrome de Turner.
Monica de Paula Jung, Maria Helena Cabral de Almeida Cardoso, Maria Auxiliadora Monteiro Villar, Juan Clinton Llerena Jr.   +3 more
doaj   +1 more source

Clinical Genetics in Britain: Origins and development [PDF]

, 2010
Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
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